DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs150974575
rs150974575 		1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 9 2000 2013
dbSNP: rs267607483
rs267607483 		1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 7 2000 2013
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2000 2012
dbSNP: rs62636495
rs62636495 		0.925 0.200 2 219418500 missense variant C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 4 2007 2009
dbSNP: rs267607495
rs267607495 		2 219418497 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs267607490
rs267607490 		0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.020 1.000 2 2001 2008
dbSNP: rs1368507241
rs1368507241 		1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2016 2016